ClinVar Miner

Submissions for variant NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) (rs61752327)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000432198 SCV000608697 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000432198 SCV000511564 likely benign not provided 2016-09-15 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000196997 SCV000251960 uncertain significance not specified 2017-05-31 criteria provided, single submitter clinical testing The V182A missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is conservative in that both Valine and Alanine are uncharged, nonpolar amino acids. This change occurs at a position in the NUBPL protein that is conserved in mammals. In-silico analyses are not consistent in their predictions of whether or not V182A is damaging to the NUBPL protein. Therefore, based on the currently available information, it is unclear whether V182A is a disease-causing mutation or a rare benign variant.
GenomeConnect, ClinGen RCV000358282 SCV000840093 not provided Mitochondrial complex I deficiency no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Illumina Clinical Services Laboratory,Illumina RCV000358282 SCV000386539 uncertain significance Mitochondrial complex I deficiency 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000432198 SCV000802391 uncertain significance not provided 2016-02-23 no assertion criteria provided clinical testing

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